Varaico: Literature-Extracted Genetic Variants

DDR1

352 papers

RefSeq Summary

Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The pr...

Pfam Domains

F5_F8_type_Caa 46–182UCSCF5/8 type C domain

DDR1-2_DS-likeaa 190–366UCSCDiscoidin domain-containing receptor 1/2, DS-like domain

PK_Tyr_Ser-Thraa 610–905UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

discoidin domain receptor tyrosine kinase 1

HGNC Previous Symbols

NTRK4; PTK3A; NEP; CAK; EDDR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001297654.2

p.R341H

c.1022G>A

Surrounding Variants

1 paper

NM_001297654.2

p.A343G

c.1028C>G

1 paper

NM_001297654.2

p.R344H

c.1031G>A

1 paper

NM_001297654.2

p.V336fs

c.1006_1007fs

1 paper

NM_001297654.2

p.S335_V336delFs

c.1005_1006delAG

1 paper

NM_001297654.2

p.C348S

c.1042T>A

1 paper

NM_001297654.2

p.C348S

c.1043G>C

1 paper

NM_001297654.2

p.A353A

c.1059G>A

2 papers

NM_001297654.2

p.G354R

c.1060G>A

2 papers

NM_001297654.2

p.G354R

c.1060G>C

1 paper

NM_001297654.2

p.L326L

c.976C>T

1 paper

NM_001297654.2

p.N325T

c.974A>C

1 paper

NM_001297654.2

p.N325S

c.974A>G